ClinVar Miner

List of variants reported as uncertain significance for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*1755G>A rs1049817964 0.00163
NM_002351.5(SH2D1A):c.*862T>A rs774701387 0.00127
NM_001167.4(XIAP):c.*1904G>A rs751700391 0.00118
NM_002351.4(SH2D1A):c.-124T>A rs148700291 0.00092
NM_001167.4(XIAP):c.*870G>C rs185823003 0.00084
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001167.4(XIAP):c.*2521A>G rs746553843 0.00046
NM_001167.4(XIAP):c.*6220C>T rs370656891 0.00037
NM_002351.5(SH2D1A):c.*1601T>C rs369322350 0.00036
NM_001167.4(XIAP):c.*3408G>T rs746713249 0.00035
NM_001167.4(XIAP):c.*6010G>A rs764617684 0.00027
NM_001167.4(XIAP):c.*3544G>A rs747125911 0.00025
NM_001167.4(XIAP):c.*1705A>G rs766498412 0.00018
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_001167.4(XIAP):c.*1481C>T rs1483818489 0.00011
NM_001167.4(XIAP):c.*1940T>C rs755490620 0.00009
NM_001167.4(XIAP):c.*6221G>A rs757596272 0.00009
NM_002351.5(SH2D1A):c.*511A>G rs921205093 0.00009
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met) rs199639961 0.00009
NM_001167.4(XIAP):c.*3001T>A rs765082277 0.00008
NM_002351.5(SH2D1A):c.*110T>C rs746586521 0.00008
NM_002351.5(SH2D1A):c.*1077G>A rs778956197 0.00005
NM_002351.5(SH2D1A):c.*1192A>G rs1355524556 0.00005
NM_002351.5(SH2D1A):c.*647G>A rs770056649 0.00005
NM_001167.4(XIAP):c.*2488C>T rs1192771463 0.00003
NM_001167.4(XIAP):c.*253C>T rs1057515749 0.00003
NM_001167.4(XIAP):c.*3845A>G rs958117071 0.00003
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) rs377097035 0.00003
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn) rs772035642 0.00003
NM_001167.4(XIAP):c.368G>A (p.Ser123Asn) rs368343771 0.00003
NM_002351.5(SH2D1A):c.*860T>C rs1057515764 0.00003
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln) rs954824608 0.00003
NM_001167.4(XIAP):c.*4691G>A rs982138652 0.00002
NM_001167.4(XIAP):c.-142G>C rs1452980309 0.00002
NM_001167.4(XIAP):c.1328G>A (p.Arg443His) rs1173411245 0.00002
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys) rs1330516966 0.00002
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys) rs1239294219 0.00002
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys) rs140973844 0.00002
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
NM_001167.4(XIAP):c.*1869G>A rs1225539193 0.00001
NM_001167.4(XIAP):c.*1950C>T rs1404651190 0.00001
NM_001167.4(XIAP):c.*3205T>C rs777738703 0.00001
NM_001167.4(XIAP):c.*3673C>T rs1304742588 0.00001
NM_001167.4(XIAP):c.*3997A>G rs1057515755 0.00001
NM_001167.4(XIAP):c.*5986G>A rs1037241174 0.00001
NM_001167.4(XIAP):c.*6009C>T rs1183404777 0.00001
NM_001167.4(XIAP):c.*6256T>C rs972613558 0.00001
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala) rs148080493 0.00001
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys) rs1417605676 0.00001
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala) rs1481750191 0.00001
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys) rs773543430 0.00001
NM_001167.4(XIAP):c.697C>T (p.Arg233Trp) rs906431319 0.00001
NM_001167.4(XIAP):c.716G>A (p.Ser239Asn) rs751640412 0.00001
NM_001167.4(XIAP):c.838A>C (p.Asn280His) rs758057572 0.00001
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile) rs1280883217 0.00001
NM_002351.5(SH2D1A):c.*26A>T rs1240769541 0.00001
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) rs1484311033 0.00001
NM_002351.5(SH2D1A):c.201+4T>G rs201574927 0.00001
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val) rs757900199 0.00001
NC_000023.10:g.(?_123019513)_(123020409_?)dup
NC_000023.10:g.(?_123019513)_(123041031_?)dup
NC_000023.10:g.(?_123480147)_(123505241_?)dup
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NM_001167.4(XIAP):c.*2401C>T rs771727226
NM_001167.4(XIAP):c.*2901T>C rs1057515751
NM_001167.4(XIAP):c.*3201A>G rs1057515752
NM_001167.4(XIAP):c.*3547C>G rs775436856
NM_001167.4(XIAP):c.*3573G>A rs1037858715
NM_001167.4(XIAP):c.*3589A>C rs2053592868
NM_001167.4(XIAP):c.*4336T>G rs2053603008
NM_001167.4(XIAP):c.*6211C>T rs1022688672
NM_001167.4(XIAP):c.*6216G>A rs1057515760
NM_001167.4(XIAP):c.*866A>G rs2053568767
NM_001167.4(XIAP):c.*93T>G rs2053562277
NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys) rs2053404854
NM_001167.4(XIAP):c.1023T>A (p.Asn341Lys) rs2053404962
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys) rs773573633
NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)
NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)
NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)
NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val) rs2053505712
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile) rs2053506466
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu) rs2053506750
NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)
NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser) rs2148107469
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn) rs199610221
NM_001167.4(XIAP):c.124G>A (p.Val42Ile)
NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)
NM_001167.4(XIAP):c.1264A>G (p.Met422Val)
NM_001167.4(XIAP):c.1301-1G>A
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp) rs2053559883
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys) rs1489246570
NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)
NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)
NM_001167.4(XIAP):c.1386del (p.Phe462fs) rs2148112215
NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)
NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)
NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs) rs2053561076
NM_001167.4(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.4(XIAP):c.181G>A (p.Val61Met) rs2148089430
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
NM_001167.4(XIAP):c.203C>T (p.Ala68Val) rs2148089461
NM_001167.4(XIAP):c.209T>G (p.Val70Gly)
NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly) rs2053346722
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser) rs28382721
NM_001167.4(XIAP):c.376C>G (p.His126Asp) rs2053348107
NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)
NM_001167.4(XIAP):c.445A>G (p.Ile149Val)
NM_001167.4(XIAP):c.459A>G (p.Ile153Met) rs2148089808
NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)
NM_001167.4(XIAP):c.478A>G (p.Met160Val)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys) rs2053349276
NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)
NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr) rs2148089869
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001167.4(XIAP):c.581T>A (p.Ile194Asn) rs2148089918
NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly) rs2053350739
NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)
NM_001167.4(XIAP):c.659A>G (p.His220Arg)
NM_001167.4(XIAP):c.660C>G (p.His220Gln)
NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)
NM_001167.4(XIAP):c.693G>A (p.Leu231=)
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln) rs1226148384
NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe) rs1602544652
NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)
NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser) rs1602544717
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) rs2148090201
NM_001167.4(XIAP):c.802C>T (p.Arg268Trp) rs2148090224
NM_001167.4(XIAP):c.805A>C (p.Ile269Leu) rs2148090233
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys) rs2053353262
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln) rs777303823
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly) rs2148092754
NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)
NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)
NM_001167.4(XIAP):c.977+3A>G rs2053376412
NM_001167.4(XIAP):c.977+4A>G
NM_001167.4(XIAP):c.978-10_978-4del rs1602549230
NM_001167.4(XIAP):c.978-9A>G rs1602549234
NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)
NM_002351.5(SH2D1A):c.*1753A>G rs867794698
NM_002351.5(SH2D1A):c.*759G>C rs1057515763
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr) rs2059993925
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val) rs2147531318
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu) rs775759946
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met) rs2147534671
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu) rs2060068693
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly) rs111033625
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup) rs2059993641

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